ClinVar Miner

List of variants studied for sterol biosynthesis disorder by Genome-Nilou Lab

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_014762.4(DHCR24):c.1020+10A>G rs611057 0.99149
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_001360.3(DHCR7):c.832-80T>C rs949176 0.86228
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_001360.3(DHCR7):c.831+69G>A rs1792265 0.83923
NM_001360.3(DHCR7):c.964-67C>T rs1792268 0.83849
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419 0.72194
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608 0.68333
NM_014762.4(DHCR24):c.1026T>C (p.Ile342=) rs718265 0.66290
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_001360.3(DHCR7):c.322-60G>T rs11603330 0.53778
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_006579.3(EBP):c.15G>T (p.Ala5=) rs3048 0.28803
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
NM_000047.3(ARSL):c.157A>G (p.Ile53Val) rs61733256 0.02854
NM_000047.3(ARSL):c.24-26C>T rs2302079 0.01922
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_000047.3(ARSL):c.430+8C>T rs56393981 0.00462
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00038
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001360.3(DHCR7):c.15G>A (p.Ser5=) rs147038941 0.00009
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_000047.3(ARSL):c.1127-141GA[10] rs34095951
NM_000047.3(ARSL):c.992-219C>G rs211643
NM_001360.3(DHCR7):c.321+219C>T rs12422045
NM_001360.3(DHCR7):c.964-1G>C rs138659167

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